Variant report

Variant	rs7632907
Chromosome Location	chr3:121141718-121141719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10451895	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs10934551	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs11705939	0.81[ASN][1000 genomes]
rs11707252	0.93[ASN][1000 genomes]
rs11707354	0.87[ASN][1000 genomes]
rs11708438	0.95[ASN][1000 genomes]
rs11709726	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11713643	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11715085	0.87[ASN][1000 genomes]
rs12233510	0.95[ASN][1000 genomes]
rs12488196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12634017	0.82[ASN][1000 genomes]
rs13059229	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13065220	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs13076688	0.95[ASN][1000 genomes]
rs13077305	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs13081748	0.95[ASN][1000 genomes]
rs13082118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13086811	0.95[ASN][1000 genomes]
rs13095841	0.98[ASN][1000 genomes]
rs13097659	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1381057	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1381058	0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1381059	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs1986730	0.95[ASN][1000 genomes]
rs1987097	0.95[ASN][1000 genomes]
rs1987098	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030531	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2126139	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126140	0.98[ASN][1000 genomes]
rs2127024	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127025	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2169300	0.95[ASN][1000 genomes]
rs2331921	0.91[ASN][1000 genomes]
rs3101345	0.88[CEU][hapmap]
rs3218649	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3732405	0.88[ASN][1000 genomes]
rs3732406	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3772122	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3806614	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs3843345	0.81[ASN][1000 genomes]
rs3911713	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4107754	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4346498	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4525804	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4555467	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4676677	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4676719	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs488636	0.82[EUR][1000 genomes]
rs502643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs524026	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs541818	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs575913	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs587553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs61796944	0.95[ASN][1000 genomes]
rs6438625	0.95[ASN][1000 genomes]
rs6438626	0.91[ASN][1000 genomes]
rs6438630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6438631	0.87[ASN][1000 genomes]
rs6438633	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6765310	0.95[ASN][1000 genomes]
rs6769377	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6775865	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6782025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6782033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6787048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793029	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6793252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs6796068	0.95[ASN][1000 genomes]
rs6797376	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6798699	0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6806191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs693403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs702019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs7609781	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7612018	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7613752	0.81[ASN][1000 genomes]
rs7615529	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7618570	0.95[ASN][1000 genomes]
rs7621376	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7622867	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7622881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7627978	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7633930	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7634611	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7644928	0.88[ASN][1000 genomes]
rs7645027	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7645544	0.93[ASN][1000 genomes]
rs7645849	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645869	0.81[ASN][1000 genomes]
rs7650439	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7650658	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849118	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591398	chr3:121046468-121154193	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv591399	chr3:121046468-121160369	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv591401	chr3:121094592-121160369	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7632907	CHST13	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood
2	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
3	chr3:121134600-121146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:121135800-121148600	Weak transcription	Thymus	Thymus
5	chr3:121135800-121149000	Weak transcription	A549	lung
6	chr3:121137400-121142200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:121137600-121145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:121137800-121148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:121139000-121145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:121139200-121150600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:121139400-121147400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:121140000-121143600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:121140200-121149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:121140600-121144600	Weak transcription	Dnd41	blood
16	chr3:121140600-121147000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:121140600-121150800	Weak transcription	HSMM	muscle
18	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:121140800-121148400	Weak transcription	Fetal Thymus	thymus
20	chr3:121140800-121149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:121140800-121150800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:121140800-121151400	Weak transcription	HepG2	liver
23	chr3:121141000-121148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:121141200-121186000	Weak transcription	NHEK	skin
25	chr3:121141400-121143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:121141600-121141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:121141600-121145200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:121141600-121147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:121141600-121148600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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